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Haplogroup H (Y-DNA)

In human genetics, Haplogroup H (M69) is a Y-chromosome haplogroup.

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This haplogroup is found at a high frequency in India. It is generally rare outside of the Indian subcontinent but is common among the Roma people, particularly the H-M82 subgroup.

It is a branch of Haplogroup F, and is believed to have arisen in India between 20,000 and 30,000 years ago. Its probable site of introduction is India since it is concentrated there, but it may also have arisen in Iran or the Middle East. It seems to represent the main Y-haplogroup of the indigenous paleolithic inhabitants of India, because it is the most frequent Y-haplogroup of lower castes and tribal populations (25-35%), especially those of Dravidian origin. On the other hand, its presence in upper castes is quite rare (ca. 10%) (Cordaux et al. 2004, Sengupta et al. 2006, Thanseem et al. 2006).

Very low frequencies of the Haplogroup H are found among populations of Pakistan compared to the frequency of this haplogroup among Indian populations. A recent study of Y-chromosome variation among populations of Pakistan found Haplogroup H1-M52 Y-chromosomes in only 2.5% of a sample of the general Pakistani population (16 out of 638 individuals), and this haplogroup was also found at similar frequencies among ethnic Pashtuns (4/96 or 4.2%) and Burusho (4/97 or 4.1%). Surprisingly, Haplogroup H1-M52 was found at a much higher frequency among this study's sample of Kalash (9/44 or 20.5%) (Firasat et al. 2007).

Haplogroup H has been found very rarely outside of the Roma and populations of the Indian subcontinent, including approximately 6% (1 out of 17 individuals) of a sample of Kurds from Turkmenistan, 4% (2/53) of Iranians from Samarkand, 2% (1/56) of Uzbeks from Bukhara, 3% (2/70) of Uzbeks from Khorezm, 2% (1/63) of Uzbeks from the Fergana Valley, 4% (2/45) of Uzbeks from Samarkand, 12.5% (2/16) of Tajiks from Dushanbe, and 2% (1/41) of Uyghurs from Kazakhstan (Wells et al. 2001). The subclade H1a-M82 has also been found in 2.0% (3/150) of a sample of the population of Iran, but only in the southern parts of the country (Regueiro et al. 2006).

References

R. Cordaux et al.: "Independent Origins of Indian Caste and Tribal Paternal Lineages." Current Biology, 2004, Vol. 14, p. 231–235
M. Regueiro et al.: "Iran: Tricontinental Nexus for Y-Chromosome Driven Migration," Human Heredity, 2006, vol. 61, pp. 132–43.
S. Sengupta et al.: "Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists." American Journal of Human Genetics, 2006, p. 202-221
I. Thamseem et al.: "Genetic affinities among the lower castes and tribal groups of India: Inference from Y chromosome and mitochondrial DNA." BMC Genetics, 2006, http://www.biomedcentral.com/1471-2156/7/42
Sadaf Firasat, Shagufta Khaliq, Aisha Mohyuddin, Myrto Papaioannou, Chris Tyler-Smith, Peter A Underhill and Qasim Ayub: "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan." European Journal of Human Genetics (2007) Vol. 15, p. 121–126. http://www.nature.com/ejhg/journal/v15/n1/full/5201726a.html
R. Spencer Wells, Nadira Yuldasheva, Ruslan Ruzibakiev, Peter A. Underhill, Irina Evseeva, Jason Blue-Smith, Li Jin, Bing Su, Ramasamy Pitchappan, Sadagopal Shanmugalakshmi, Karuppiah Balakrishnan, Mark Read, Nathaniel M. Pearson, Tatiana Zerjal, Matthew T. Webster, Irakli Zholoshvili, Elena Jamarjashvili, Spartak Gambarov, Behrouz Nikbin, Ashur Dostiev, Ogonazar Aknazarov, Pierre Zalloua, Igor Tsoy, Mikhail Kitaev, Mirsaid Mirrakhimov, Ashir Chariev, and Walter F. Bodmer: "The Eurasian Heartland: A continental perspective on Y-chromosome diversity." Proceedings of the National Academy of Sciences of the United States of America v.98(18); Aug 28, 2001